Epileptic encephalopathy
Gene: SLC35A2Comment on list classification: Updated rating from Red to Green: SLC35A2 added to panel after March 2017 OMIM updates. 2 papers with 4 unrelated patients supporting association between SLC35A2 and EE. Green rating confirmed by Arianna Tucci.Created: 11 May 2017, 12:08 p.m.
In 3 unrelated Japanese girls with early infantile epileptic encephalopathy (age 8, 10 and 12), Kodera et al. (2013, PMID:24115232) identified 3 different de novo heterozygous mutations in the SLC35A2 gene. 2 of the mutations resulted in truncated proteins, suggesting a loss of function, and 1 was a missense mutation with no functional studies.Created: 11 May 2017, 12:07 p.m.
PMID:27743886 (Kimizu et al., 2017) report a female infant with early onset epileptic encephalopathy and developmental delay (amongst other symptoms). She had a frameshift mutation (c.950delG, p.Gly317Alafs*32) in SLC35A2.Created: 11 May 2017, 12:07 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Congenital disorder of glycosylation, type IIm, 300896 (includes Epileptic encephalopathy); Epileptic encephalopathy, early infantile, 22 (EIEE22); early-onset epileptic encephalopathy
Publications
This gene has been classified as Green List (High Evidence).
Publications for SLC35A2 were set to 24115232; 27743886
SLC35A2 was added to Epileptic encephalopathypanel. Sources: Other
SLC35A2 was created by rfoulger